Incidental Mutation 'R6992:Vwa5b2'
ID 543933
Institutional Source Beutler Lab
Gene Symbol Vwa5b2
Ensembl Gene ENSMUSG00000046613
Gene Name von Willebrand factor A domain containing 5B2
Synonyms EG328644
MMRRC Submission 045098-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R6992 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 20408221-20424127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20416952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 550 (Y550N)
Ref Sequence ENSEMBL: ENSMUSP00000123727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096197] [ENSMUST00000100074] [ENSMUST00000149236] [ENSMUST00000159780]
AlphaFold Q3UR50
Predicted Effect probably damaging
Transcript: ENSMUST00000096197
AA Change: Y550N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: Y550N

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 7.3e-31 PFAM
VWA 352 521 3.16e-1 SMART
low complexity region 684 706 N/A INTRINSIC
low complexity region 725 733 N/A INTRINSIC
low complexity region 744 764 N/A INTRINSIC
low complexity region 780 797 N/A INTRINSIC
low complexity region 823 833 N/A INTRINSIC
low complexity region 1032 1046 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100074
AA Change: Y550N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097652
Gene: ENSMUSG00000046613
AA Change: Y550N

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 1.9e-31 PFAM
VWA 352 521 3.16e-1 SMART
low complexity region 572 586 N/A INTRINSIC
low complexity region 587 602 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149236
SMART Domains Protein: ENSMUSP00000124117
Gene: ENSMUSG00000046613

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 7.9e-32 PFAM
Blast:VWA 352 408 2e-26 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000159780
AA Change: Y550N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: Y550N

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 5.5e-31 PFAM
VWA 352 521 3.16e-1 SMART
low complexity region 684 706 N/A INTRINSIC
low complexity region 725 733 N/A INTRINSIC
low complexity region 744 764 N/A INTRINSIC
low complexity region 780 797 N/A INTRINSIC
low complexity region 823 833 N/A INTRINSIC
low complexity region 1032 1046 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,099,990 (GRCm39) S171N possibly damaging Het
6030468B19Rik T G 11: 117,688,594 (GRCm39) M1R probably null Het
A730049H05Rik T C 6: 92,804,975 (GRCm39) probably benign Het
AC125199.3 G T 16: 88,608,915 (GRCm39) H52Q possibly damaging Het
Adam34 A T 8: 44,105,642 (GRCm39) M1K probably null Het
Adgrf5 T C 17: 43,763,214 (GRCm39) probably null Het
Antxr2 T C 5: 98,108,564 (GRCm39) T316A probably benign Het
Cc2d1a A T 8: 84,861,542 (GRCm39) V714D probably damaging Het
Cd96 A G 16: 45,870,087 (GRCm39) S461P possibly damaging Het
Cdc16 C A 8: 13,809,188 (GRCm39) A51E probably benign Het
Chd4 T A 6: 125,091,339 (GRCm39) D1243E probably benign Het
Cntf A T 19: 12,742,697 (GRCm39) I21N probably damaging Het
Col11a2 C T 17: 34,266,118 (GRCm39) A282V probably benign Het
Col14a1 T A 15: 55,274,958 (GRCm39) probably null Het
Cyp2b9 T C 7: 25,900,564 (GRCm39) Y401H probably benign Het
Dlgap4 A G 2: 156,590,860 (GRCm39) probably null Het
Fancd2 T C 6: 113,547,979 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,839,608 (GRCm39) F474I probably benign Het
Frem1 A G 4: 82,858,599 (GRCm39) V1622A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Gstm4 A G 3: 107,951,981 (GRCm39) M3T possibly damaging Het
Hdac10 T C 15: 89,009,534 (GRCm39) D466G probably benign Het
Hook2 A G 8: 85,729,185 (GRCm39) E625G probably damaging Het
Hspbp1 G C 7: 4,667,714 (GRCm39) P260A probably benign Het
Igdcc3 C A 9: 65,088,853 (GRCm39) Q411K probably damaging Het
Il18rap G A 1: 40,581,195 (GRCm39) E356K probably benign Het
Inpp4a A T 1: 37,428,772 (GRCm39) M699L probably damaging Het
Klhdc1 A G 12: 69,300,531 (GRCm39) H157R probably damaging Het
Klhl6 G T 16: 19,772,337 (GRCm39) T336N probably damaging Het
Marchf7 T C 2: 60,059,428 (GRCm39) probably null Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlh3 T A 12: 85,282,494 (GRCm39) N1412Y probably damaging Het
Mrps27 A G 13: 99,541,522 (GRCm39) M209V probably benign Het
Mtor A T 4: 148,548,932 (GRCm39) T572S probably benign Het
Neurog1 T C 13: 56,399,363 (GRCm39) K128R probably damaging Het
Or10g6 T A 9: 39,933,896 (GRCm39) L69* probably null Het
Or2b4 T A 17: 38,116,754 (GRCm39) N239K probably damaging Het
Or5b122 A G 19: 13,562,811 (GRCm39) I48V possibly damaging Het
Pcdhgb1 A G 18: 37,814,652 (GRCm39) K381R probably benign Het
Pdzd2 T C 15: 12,457,945 (GRCm39) D306G probably damaging Het
Plekha5 C T 6: 140,489,634 (GRCm39) T237I probably damaging Het
Plscr1l1 T C 9: 92,236,725 (GRCm39) M128T probably benign Het
Pole A T 5: 110,480,365 (GRCm39) I103F probably damaging Het
Ppfia2 A T 10: 106,310,715 (GRCm39) Q74L possibly damaging Het
Ppm1d T C 11: 85,223,178 (GRCm39) F261S probably damaging Het
Psg21 A T 7: 18,388,668 (GRCm39) probably null Het
Ptprg T A 14: 11,962,602 (GRCm38) F133L probably damaging Het
Rom1 G A 19: 8,906,569 (GRCm39) probably benign Het
Rtn3 A G 19: 7,412,489 (GRCm39) F762L probably damaging Het
Sec23ip T C 7: 128,367,164 (GRCm39) S600P probably benign Het
Sema4b T A 7: 79,869,900 (GRCm39) I396N probably damaging Het
Serpina3k T A 12: 104,307,366 (GRCm39) D199E probably benign Het
Slc19a1 A G 10: 76,885,540 (GRCm39) D480G possibly damaging Het
Slc8b1 G A 5: 120,665,880 (GRCm39) V404M probably damaging Het
Slco1a4 T C 6: 141,765,330 (GRCm39) D304G probably benign Het
Smpdl3b G T 4: 132,472,452 (GRCm39) A107D possibly damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tmem245 A G 4: 56,937,940 (GRCm39) F203L probably benign Het
Tnip1 T A 11: 54,809,542 (GRCm39) I442F probably benign Het
Txnip A G 3: 96,466,439 (GRCm39) K127R possibly damaging Het
Usp32 A C 11: 84,922,914 (GRCm39) L172R probably damaging Het
Vmn2r66 A G 7: 84,654,436 (GRCm39) S508P possibly damaging Het
Wdr81 G A 11: 75,342,612 (GRCm39) A885V probably benign Het
Other mutations in Vwa5b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Vwa5b2 APN 16 20,423,020 (GRCm39) missense probably benign
IGL01543:Vwa5b2 APN 16 20,414,466 (GRCm39) missense probably benign 0.02
IGL01719:Vwa5b2 APN 16 20,416,183 (GRCm39) critical splice donor site probably null
IGL02006:Vwa5b2 APN 16 20,415,843 (GRCm39) missense probably damaging 0.97
IGL02150:Vwa5b2 APN 16 20,423,576 (GRCm39) missense probably benign
IGL02301:Vwa5b2 APN 16 20,423,540 (GRCm39) missense probably damaging 1.00
IGL02373:Vwa5b2 APN 16 20,423,594 (GRCm39) missense probably damaging 0.99
IGL02413:Vwa5b2 APN 16 20,416,851 (GRCm39) missense probably damaging 1.00
IGL02664:Vwa5b2 APN 16 20,414,063 (GRCm39) unclassified probably benign
R1171:Vwa5b2 UTSW 16 20,423,734 (GRCm39) missense probably benign
R1405:Vwa5b2 UTSW 16 20,423,066 (GRCm39) missense probably benign 0.00
R1405:Vwa5b2 UTSW 16 20,423,066 (GRCm39) missense probably benign 0.00
R1464:Vwa5b2 UTSW 16 20,415,019 (GRCm39) missense probably benign 0.08
R1464:Vwa5b2 UTSW 16 20,415,019 (GRCm39) missense probably benign 0.08
R1730:Vwa5b2 UTSW 16 20,419,675 (GRCm39) missense probably damaging 1.00
R1901:Vwa5b2 UTSW 16 20,423,582 (GRCm39) missense possibly damaging 0.77
R1902:Vwa5b2 UTSW 16 20,423,582 (GRCm39) missense possibly damaging 0.77
R1903:Vwa5b2 UTSW 16 20,423,582 (GRCm39) missense possibly damaging 0.77
R1959:Vwa5b2 UTSW 16 20,420,941 (GRCm39) critical splice donor site probably null
R1961:Vwa5b2 UTSW 16 20,420,941 (GRCm39) critical splice donor site probably null
R3522:Vwa5b2 UTSW 16 20,420,358 (GRCm39) missense probably damaging 0.99
R3687:Vwa5b2 UTSW 16 20,410,308 (GRCm39) unclassified probably benign
R3746:Vwa5b2 UTSW 16 20,417,076 (GRCm39) intron probably benign
R3747:Vwa5b2 UTSW 16 20,417,076 (GRCm39) intron probably benign
R3749:Vwa5b2 UTSW 16 20,417,076 (GRCm39) intron probably benign
R3952:Vwa5b2 UTSW 16 20,417,111 (GRCm39) makesense probably null
R4641:Vwa5b2 UTSW 16 20,423,393 (GRCm39) missense probably damaging 1.00
R4646:Vwa5b2 UTSW 16 20,415,079 (GRCm39) missense probably damaging 1.00
R4772:Vwa5b2 UTSW 16 20,419,553 (GRCm39) splice site probably null
R5032:Vwa5b2 UTSW 16 20,419,459 (GRCm39) missense probably damaging 1.00
R5286:Vwa5b2 UTSW 16 20,415,058 (GRCm39) missense probably damaging 1.00
R5569:Vwa5b2 UTSW 16 20,414,089 (GRCm39) missense probably damaging 1.00
R5585:Vwa5b2 UTSW 16 20,413,428 (GRCm39) nonsense probably null
R5640:Vwa5b2 UTSW 16 20,416,292 (GRCm39) missense probably damaging 1.00
R6330:Vwa5b2 UTSW 16 20,420,727 (GRCm39) missense probably damaging 1.00
R6459:Vwa5b2 UTSW 16 20,413,429 (GRCm39) missense probably damaging 0.98
R7102:Vwa5b2 UTSW 16 20,422,984 (GRCm39) missense probably benign 0.00
R7231:Vwa5b2 UTSW 16 20,422,878 (GRCm39) missense probably benign 0.00
R7591:Vwa5b2 UTSW 16 20,420,317 (GRCm39) missense probably damaging 0.96
R7765:Vwa5b2 UTSW 16 20,413,361 (GRCm39) missense probably benign
R8269:Vwa5b2 UTSW 16 20,423,188 (GRCm39) missense probably damaging 1.00
R8311:Vwa5b2 UTSW 16 20,409,972 (GRCm39) missense probably damaging 1.00
R8707:Vwa5b2 UTSW 16 20,412,965 (GRCm39) missense probably benign 0.01
R8716:Vwa5b2 UTSW 16 20,415,026 (GRCm39) missense probably benign 0.00
R8815:Vwa5b2 UTSW 16 20,419,516 (GRCm39) missense probably damaging 1.00
R8965:Vwa5b2 UTSW 16 20,415,076 (GRCm39) missense possibly damaging 0.72
R9245:Vwa5b2 UTSW 16 20,416,890 (GRCm39) missense probably damaging 1.00
R9431:Vwa5b2 UTSW 16 20,423,046 (GRCm39) missense probably benign 0.00
R9536:Vwa5b2 UTSW 16 20,414,449 (GRCm39) missense probably damaging 1.00
R9695:Vwa5b2 UTSW 16 20,422,975 (GRCm39) missense probably benign
R9727:Vwa5b2 UTSW 16 20,423,477 (GRCm39) missense probably damaging 1.00
Z1176:Vwa5b2 UTSW 16 20,410,003 (GRCm39) missense probably damaging 0.99
Z1177:Vwa5b2 UTSW 16 20,419,401 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTATGCTCCCTACCAGTGCAG -3'
(R):5'- GGCATTCTCTATGGGGCTCTAG -3'

Sequencing Primer
(F):5'- TACCAGTGCAGGCCTGG -3'
(R):5'- CTCTAGGGGCCTATAGGATTCTTAGC -3'
Posted On 2019-05-13